Crygc-KO 基因敲除小鼠

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产品名称

Crygc-KO 基因敲除小鼠

产品编号

S-KO-01650

品系全称

C57BL/6JCya-Crygcem1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-12966-Crygc-B6J-VA

品系状态

使用本品系发表的文献需注明: Crygc-KO 基因敲除小鼠 mice (Strain S-KO-01650) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量

基本信息

基因研究概述

质控标准

基因
基因全称
crystallin, gamma C
基因别称
Cryg-5
染色体号
Chr 1 (Mouse)
转录本 ID
NCBI: NM_001082573.2 | Ensembl: ENSMUST00000114064
修饰方式
全身性基因敲除
靶向范围
Exon 1~3
敲除长度
~1902 bp
品系说明
该品系是基于策略设计时的数据库信息制作而成,建议您在购买前查询最新的数据库和相关文献,以获取最准确的表型信息。
表型提示
MGI:88523Homozygotes and heterozygotes for a chlorambucil-induced mutation exhibit a nuclear and radial cataract characterized by persistence of the lens fiber cell nuclei. Homozygotes present a more severe cataract with mild microphthalmia.
CRYGC,也称为γC-晶状体蛋白,是一种在哺乳动物晶状体中表达的蛋白质。它是晶状体蛋白家族的一部分,该家族在维持晶状体的透明性和光学功能方面起着至关重要的作用。CRYGC在晶状体发育和成熟过程中发挥着重要作用,其结构和功能的改变会导致晶状体混浊,进而导致先天性白内障。CRYGC基因的突变与多种白内障表型相关,包括核性白内障、粉末状白内障和微角膜等[1][2][3][4][5][6][7][8][9][10]。

CRYGC基因突变导致的白内障通常是常染色体显性遗传的,这意味着只需要一个突变的基因副本就可以导致疾病的发生。这些突变可以影响CRYGC蛋白的结构和功能,导致晶状体蛋白质聚集和光损伤加剧,最终导致白内障的形成[1]。CRYGC基因突变通常在CRYGC蛋白的保守区域发生,这些区域对于维持CRYGC蛋白的结构和功能至关重要。例如,在CRYGC基因中发现的Trp131Arg突变,导致一个高度保守的色氨酸被精氨酸取代,这种突变会导致CRYGC蛋白的聚集和光损伤加剧,最终导致白内障的形成[1]。

近年来,随着CRISPR-Cas9技术的出现,对CRYGC基因突变导致白内障的治疗研究取得了重大进展。例如,研究人员使用CRISPR-Cas9技术成功地在小鼠中纠正了一个导致白内障的CRYGC基因突变。这项研究为使用CRISPR-Cas9技术治疗CRYGC基因突变导致白内障提供了原理性的证据[3]。

综上所述,CRYGC基因突变与多种白内障表型相关,这些突变通常在CRYGC蛋白的保守区域发生,导致晶状体蛋白质聚集和光损伤加剧,最终导致白内障的形成。近年来,随着CRISPR-Cas9技术的出现,对CRYGC基因突变导致白内障的治疗研究取得了重大进展。CRYGC基因突变的研究有助于深入理解白内障的发生机制,为白内障的治疗和预防提供新的思路和策略。

参考文献:
1. Delas, Flora, Koller, Samuel, Feil, Silke, Gerth-Kahlert, Christina, Berger, Wolfgang. 2023. Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract. In International journal of molecular sciences, 24, . doi:10.3390/ijms242316594. https://pubmed.ncbi.nlm.nih.gov/38068917/
2. González-Huerta, Luz Ma, Messina-Baas, Olga, Urueta, Héctor, Toral-López, Jaime, Cuevas-Covarrubias, Sergio A. 2013. A CRYGC gene mutation associated with autosomal dominant pulverulent cataract. In Gene, 529, 181-5. doi:10.1016/j.gene.2013.07.044. https://pubmed.ncbi.nlm.nih.gov/23954869/
3. Wu, Yuxuan, Liang, Dan, Wang, Yinghua, Li, Dangsheng, Li, Jinsong. . Correction of a genetic disease in mouse via use of CRISPR-Cas9. In Cell stem cell, 13, 659-62. doi:10.1016/j.stem.2013.10.016. https://pubmed.ncbi.nlm.nih.gov/24315440/
4. Zhou, Zhenbao, Zhao, Liying, Guo, Yanqin, Liu, Jieting, Wang, Libo. 2021. A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea. In Ophthalmology science, 2, 100093. doi:10.1016/j.xops.2021.100093. https://pubmed.ncbi.nlm.nih.gov/36246175/
5. Kandaswamy, Dinesh Kumar, Vasantha, K, Graw, Jochen, Santhiya, Sathiyaveedu Thyagarajan. 2020. A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred. In Ophthalmic genetics, 41, 556-562. doi:10.1080/13816810.2020.1807027. https://pubmed.ncbi.nlm.nih.gov/32811259/
6. Zhong, Zilin, Wu, Zehua, Han, Liyun, Chen, Jianjun. 2017. Novel mutations in CRYGC are associated with congenital cataracts in Chinese families. In Scientific reports, 7, 189. doi:10.1038/s41598-017-00318-1. https://pubmed.ncbi.nlm.nih.gov/28298635/
7. Peng, Yu, Zheng, Yu, Deng, Zifeng, Tao, Lijuan, Luo, Yulin. 2022. Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia. In Frontiers in genetics, 13, 866246. doi:10.3389/fgene.2022.866246. https://pubmed.ncbi.nlm.nih.gov/35719371/
8. Zhang, Jing, Sun, Donglan, Wang, Yacong, Peng, Yuanyuan, Mi, Dongqing. . [Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 36, 697-700. doi:10.3760/cma.j.issn.1003-9406.2019.07.010. https://pubmed.ncbi.nlm.nih.gov/31302914/
9. Yao, Ke, Jin, Chongfei, Zhu, Ning, Jiang, Jin, Shentu, Xingchao. 2008. A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family. In Molecular vision, 14, 1272-6. doi:. https://pubmed.ncbi.nlm.nih.gov/18618005/
10. Guo, Yuanyuan, Su, Dongmei, Li, Qian, Ma, Xu, Zhu, Siquan. 2012. A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. In Molecular vision, 18, 1874-80. doi:. https://pubmed.ncbi.nlm.nih.gov/22876111/